MCID: SKN062
MIFTS: 21

Skin Creases, Congenital Symmetric Circumferential, 2

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Skin Creases, Congenital Symmetric Circumferential, 2

MalaCards integrated aliases for Skin Creases, Congenital Symmetric Circumferential, 2:

Name: Skin Creases, Congenital Symmetric Circumferential, 2 57 75 6
Cscsc2 57 75
Symmetric Circumferential Skin Creases, Congenital, 2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
spontaneous improvement or resolution of skin creases in childhood
based on report of 4 unrelated patients (last curated january 2016)


HPO:

32
skin creases, congenital symmetric circumferential, 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Skin Creases, Congenital Symmetric Circumferential, 2

OMIM : 57 Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (156610). (616734)

MalaCards based summary : Skin Creases, Congenital Symmetric Circumferential, 2, is also known as cscsc2. An important gene associated with Skin Creases, Congenital Symmetric Circumferential, 2 is MAPRE2 (Microtubule Associated Protein RP/EB Family Member 2). Affiliated tissues include skin, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 Skin creases, congenital symmetric circumferential, 2: An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features.

Related Diseases for Skin Creases, Congenital Symmetric Circumferential, 2

Diseases in the Skin Creases, Congenital Symmetric Circumferential, 1 family:

Skin Creases, Congenital Symmetric Circumferential, 2

Symptoms & Phenotypes for Skin Creases, Congenital Symmetric Circumferential, 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears
thick, overfolded helices
prominent earlobes
more
Head And Neck Mouth:
cleft palate
microstomia

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
hypoplastic scrotum

Growth Height:
short stature (in some patients)

Skeletal Skull:
microcephaly (rare)

Skeletal Hands:
long fingers (in some patients)
fifth-finger clinodactyly (in some patients)
tapering fingers (in some patients)
short hands (in some patients)

Chest Breasts:
widely spaced nipples (in some patients)

Head And Neck Teeth:
absent maxillary incisors (rare)
small teeth (rare)
tooth decay

Genitourinary Ureters:
ureterocele, unilateral (rare)

Skin Nails Hair Skin Histology:
normal histology of affected skin

Head And Neck Neck:
short neck
circumferential skin folds of neck (in some patients)
wide neck

Head And Neck Face:
micrognathia
flat face

Head And Neck Eyes:
microphthalmia
microcornea
downslanting palpebral fissures
epicanthal folds
short palpebral fissures
more
Neurologic Central Nervous System:
motor delay
hypotonia, mild
speech delay
mental retardation (mild to moderate in heterozygotes, severe in homozygotes)
seizures (in homozygotes)
more
Head And Neck Head:
microcephaly (rare)

Head And Neck Nose:
broad depressed nasal bridge

Skin Nails Hair Skin:
circumferential skin creases on extremities
circumferential skin creases on neck (in some patients)

Skeletal Feet:
pes planus (in some patients)
cutaneous syndactyly between second and third toes (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild (in some patients)

Skeletal:
diffuse osteopenia (rare)


Clinical features from OMIM:

616734

Human phenotypes related to Skin Creases, Congenital Symmetric Circumferential, 2:

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 occasional (7.5%) HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 pectus excavatum 32 occasional (7.5%) HP:0000767
5 seizures 32 HP:0001250
6 carious teeth 32 HP:0000670
7 delayed speech and language development 32 HP:0000750
8 pes planus 32 occasional (7.5%) HP:0001763
9 microtia 32 HP:0008551
10 microcephaly 32 occasional (7.5%) HP:0000252
11 short stature 32 occasional (7.5%) HP:0004322
12 cleft palate 32 HP:0000175
13 micrognathia 32 HP:0000347
14 short palm 32 occasional (7.5%) HP:0004279
15 epicanthus 32 HP:0000286
16 microdontia 32 occasional (7.5%) HP:0000691
17 cryptorchidism 32 HP:0000028
18 flat face 32 HP:0012368
19 wide intermamillary distance 32 occasional (7.5%) HP:0006610
20 broad neck 32 HP:0000475
21 microphthalmia 32 HP:0000568
22 hypospadias 32 HP:0000047
23 downslanted palpebral fissures 32 HP:0000494
24 narrow mouth 32 HP:0000160
25 upslanted palpebral fissure 32 HP:0000582
26 blepharophimosis 32 occasional (7.5%) HP:0000581
27 microcornea 32 HP:0000482
28 tapered finger 32 occasional (7.5%) HP:0001182
29 motor delay 32 HP:0001270
30 hypoplasia of the corpus callosum 32 HP:0002079
31 scrotal hypoplasia 32 HP:0000046
32 short palpebral fissure 32 HP:0012745
33 generalized hypotonia 32 HP:0001290
34 posteriorly rotated ears 32 HP:0000358

Drugs & Therapeutics for Skin Creases, Congenital Symmetric Circumferential, 2

Search Clinical Trials , NIH Clinical Center for Skin Creases, Congenital Symmetric Circumferential, 2

Genetic Tests for Skin Creases, Congenital Symmetric Circumferential, 2

Anatomical Context for Skin Creases, Congenital Symmetric Circumferential, 2

MalaCards organs/tissues related to Skin Creases, Congenital Symmetric Circumferential, 2:

41
Skin

Publications for Skin Creases, Congenital Symmetric Circumferential, 2

Variations for Skin Creases, Congenital Symmetric Circumferential, 2

UniProtKB/Swiss-Prot genetic disease variations for Skin Creases, Congenital Symmetric Circumferential, 2:

75
# Symbol AA change Variation ID SNP ID
1 MAPRE2 p.Asn68Ser VAR_076540 rs864309719
2 MAPRE2 p.Tyr87Cys VAR_076541 rs864309717
3 MAPRE2 p.Arg143Cys VAR_076542 rs864309720

ClinVar genetic disease variations for Skin Creases, Congenital Symmetric Circumferential, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAPRE2 NM_001143826.2(MAPRE2): c.131A> G (p.Tyr44Cys) single nucleotide variant Pathogenic rs864309717 GRCh37 Chromosome 18, 32677419: 32677419
2 MAPRE2 NM_001143826.2(MAPRE2): c.131A> G (p.Tyr44Cys) single nucleotide variant Pathogenic rs864309717 GRCh38 Chromosome 18, 35097455: 35097455
3 MAPRE2 NM_001143826.2(MAPRE2): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs864309718 GRCh38 Chromosome 18, 35102003: 35102003
4 MAPRE2 NM_001143826.2(MAPRE2): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs864309718 GRCh37 Chromosome 18, 32681967: 32681967
5 MAPRE2 NM_001143826.2(MAPRE2): c.74A> G (p.Asn25Ser) single nucleotide variant Pathogenic rs864309719 GRCh37 Chromosome 18, 32650239: 32650239
6 MAPRE2 NM_001143826.2(MAPRE2): c.74A> G (p.Asn25Ser) single nucleotide variant Pathogenic rs864309719 GRCh38 Chromosome 18, 35070275: 35070275
7 MAPRE2 NM_001143826.2(MAPRE2): c.298C> T (p.Arg100Cys) single nucleotide variant Pathogenic rs864309720 GRCh37 Chromosome 18, 32681940: 32681940
8 MAPRE2 NM_001143826.2(MAPRE2): c.298C> T (p.Arg100Cys) single nucleotide variant Pathogenic rs864309720 GRCh38 Chromosome 18, 35101976: 35101976

Expression for Skin Creases, Congenital Symmetric Circumferential, 2

Search GEO for disease gene expression data for Skin Creases, Congenital Symmetric Circumferential, 2.

Pathways for Skin Creases, Congenital Symmetric Circumferential, 2

GO Terms for Skin Creases, Congenital Symmetric Circumferential, 2

Sources for Skin Creases, Congenital Symmetric Circumferential, 2

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